P337: Variant classification is negatively impacted by the absence of biochemical data in published patient reports
Saved in:
| Main Authors: | , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
|
| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425003413 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850178277873811456 |
|---|---|
| author | Jeffrey Bissonnette Betty Mathias Melida Mahinic Ana Gutalj Rasema Bihorac Hrelja Mirna Racic Sabina Alagic Ena Toman Paty Romero Jane Beckwell Elizabeth Wiley Kathryn Curry Anna McGill Amina Kozaric Mark Kiel |
| author_facet | Jeffrey Bissonnette Betty Mathias Melida Mahinic Ana Gutalj Rasema Bihorac Hrelja Mirna Racic Sabina Alagic Ena Toman Paty Romero Jane Beckwell Elizabeth Wiley Kathryn Curry Anna McGill Amina Kozaric Mark Kiel |
| author_sort | Jeffrey Bissonnette |
| collection | DOAJ |
| format | Article |
| id | doaj-art-9455879cfeb1476b8efbfb7f17320de9 |
| institution | OA Journals |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-9455879cfeb1476b8efbfb7f17320de92025-08-20T02:18:47ZengElsevierGenetics in Medicine Open2949-77442025-01-01310230210.1016/j.gimo.2025.102302P337: Variant classification is negatively impacted by the absence of biochemical data in published patient reportsJeffrey Bissonnette0Betty Mathias1Melida Mahinic2Ana Gutalj3Rasema Bihorac Hrelja4Mirna Racic5Sabina Alagic6Ena Toman7Paty Romero8Jane Beckwell9Elizabeth Wiley10Kathryn Curry11Anna McGill12Amina Kozaric13Mark Kiel14GenomenonGenomenonGenomenonGenomenonGenomenonGenomenonGenomenonGenomenonGenomenonGenomenonGenomenonGenomenonGenomenonGenomenonGenomenonhttp://www.sciencedirect.com/science/article/pii/S2949774425003413 |
| spellingShingle | Jeffrey Bissonnette Betty Mathias Melida Mahinic Ana Gutalj Rasema Bihorac Hrelja Mirna Racic Sabina Alagic Ena Toman Paty Romero Jane Beckwell Elizabeth Wiley Kathryn Curry Anna McGill Amina Kozaric Mark Kiel P337: Variant classification is negatively impacted by the absence of biochemical data in published patient reports Genetics in Medicine Open |
| title | P337: Variant classification is negatively impacted by the absence of biochemical data in published patient reports |
| title_full | P337: Variant classification is negatively impacted by the absence of biochemical data in published patient reports |
| title_fullStr | P337: Variant classification is negatively impacted by the absence of biochemical data in published patient reports |
| title_full_unstemmed | P337: Variant classification is negatively impacted by the absence of biochemical data in published patient reports |
| title_short | P337: Variant classification is negatively impacted by the absence of biochemical data in published patient reports |
| title_sort | p337 variant classification is negatively impacted by the absence of biochemical data in published patient reports |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425003413 |
| work_keys_str_mv | AT jeffreybissonnette p337variantclassificationisnegativelyimpactedbytheabsenceofbiochemicaldatainpublishedpatientreports AT bettymathias p337variantclassificationisnegativelyimpactedbytheabsenceofbiochemicaldatainpublishedpatientreports AT melidamahinic p337variantclassificationisnegativelyimpactedbytheabsenceofbiochemicaldatainpublishedpatientreports AT anagutalj p337variantclassificationisnegativelyimpactedbytheabsenceofbiochemicaldatainpublishedpatientreports AT rasemabihorachrelja p337variantclassificationisnegativelyimpactedbytheabsenceofbiochemicaldatainpublishedpatientreports AT mirnaracic p337variantclassificationisnegativelyimpactedbytheabsenceofbiochemicaldatainpublishedpatientreports AT sabinaalagic p337variantclassificationisnegativelyimpactedbytheabsenceofbiochemicaldatainpublishedpatientreports AT enatoman p337variantclassificationisnegativelyimpactedbytheabsenceofbiochemicaldatainpublishedpatientreports AT patyromero p337variantclassificationisnegativelyimpactedbytheabsenceofbiochemicaldatainpublishedpatientreports AT janebeckwell p337variantclassificationisnegativelyimpactedbytheabsenceofbiochemicaldatainpublishedpatientreports AT elizabethwiley p337variantclassificationisnegativelyimpactedbytheabsenceofbiochemicaldatainpublishedpatientreports AT kathryncurry p337variantclassificationisnegativelyimpactedbytheabsenceofbiochemicaldatainpublishedpatientreports AT annamcgill p337variantclassificationisnegativelyimpactedbytheabsenceofbiochemicaldatainpublishedpatientreports AT aminakozaric p337variantclassificationisnegativelyimpactedbytheabsenceofbiochemicaldatainpublishedpatientreports AT markkiel p337variantclassificationisnegativelyimpactedbytheabsenceofbiochemicaldatainpublishedpatientreports |